This website is about Ellie who has CDKL5. It is also about the story of CDKL5, what we know and what is currently being learned. The aim of supporting-CDKL5 is to raise the profile of CDKL5 and encourage support for research.
http://supporting-cdkl5.co.uk/
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Supporting CDKL5 | supporting-cdkl5.co.uk Reviews
https://supporting-cdkl5.co.uk
This website is about Ellie who has CDKL5. It is also about the story of CDKL5, what we know and what is currently being learned. The aim of supporting-CDKL5 is to raise the profile of CDKL5 and encourage support for research.
supporting-cdkl5.co.uk
Supporting CDKL5
http://www.supporting-cdkl5.co.uk/story-of-cdkl5.php
The story of CDKL5. The Genetics of CDKL5. CDKL5 and Related Research. The story of CDKL5 so far. The story of CDKL5 begins with Rett Syndrome. Which was first described by. An Austrian paediatrician. His original article. Uber ein zerebral-atrophisches Syndrome bei Hyperammonemie. However, it wasn't until the. Was identified in t. Number of genetic conditions had previously been mapped to this region. The new gene was initially called. The STK9 (Serine-Threonine Kinase) gene. Further studies appeared fr...
Supporting CDKL5
http://www.supporting-cdkl5.co.uk/ellies-diary.php
The story of CDKL5. The Genetics of CDKL5. CDKL5 and Related Research. So my birthday week - as I seem to be having - continued. Actually, today was Easter Sunday which is always a good excuse to get together. But, because it was also close to my birthday we had an even better excuse. When we got home mum did give me a sip of something called champagne which tickled my nose and made me giggle. Happy Easter everybody. So, today was my birthday . again! Then, on my birthday I was given a nice cake with lot...
Supporting CDKL5
http://www.supporting-cdkl5.co.uk/ellies-story.php
The story of CDKL5. The Genetics of CDKL5. CDKL5 and Related Research. They couldn’t find out what was wrong with me. And that’s because CDKL5 was yet to be discovered. Then by chance they heard of a little girl, much younger than me, who was attending the Special Nursery I used to go to and she was just like me! And when mum met her dad and they had a chat it turned out that she had a diagnosis of CDKL5! And YES I do have CDKL5. It turns out that I have a deletion of Exon 5 (! Sounds really odd to want ...
Supporting CDKL5
http://www.supporting-cdkl5.co.uk/living-with-cdkl5.php
The story of CDKL5. The Genetics of CDKL5. CDKL5 and Related Research. Living with Ellie and CDKL5. On this page, we are going to discuss some of our own experiences of living with Ellie for 13 years before her diagnosis was established, and the issues we now face as she gets older. We also hope that other families, who may find themselves in a similar position to us, come to realise that not only IS there a life with an "Ellie". but it can also be fun! I have, in places, referred to a review article.
Supporting CDKL5
http://www.supporting-cdkl5.co.uk/the-genetics-of-cdkl5.php
The story of CDKL5. The Genetics of CDKL5. CDKL5 and Related Research. The genetics of CDKL5. To understand how mutations cause conditions like CDKL5 it is worthwhile understanding the basics of how genes work. Genes are contained within our DNA. A gene is the "blueprint" for making a protein and is composed of a chain of bases or base-pairs. A gene is a specific section of DNA that codes for a protein. A protein consists of a chain of amino acids, and every 3 base-pairs, called a codon, in the gene.
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mariacarolinacdkl5.blogspot.com
Maria Carolina e CDKL5: CDKL5
http://mariacarolinacdkl5.blogspot.com/p/cdkl5.html
Maria Carolina e CDKL5. Nossa luta contra essa doença rara. CDKL5 é uma desordem genética rara que resulta no aparecimento precoce, na dificuldade para controlar convulsões e no comprometimento grave do desenvolvimento neurológico. Existem menos de 200 casos em todo o mundo, no entanto, mais e mais crianças estão sendo diagnosticadas com CDKL5. Para maiores informações http:/ www.cdkl5.com/. Compartilhar com o Pinterest. ESTUDO DE DOENÇAS RARAS. 15 de dezembro de 2012 18:25. Visualizar meu perfil completo.
mariacarolinacdkl5.blogspot.com
Maria Carolina e CDKL5: Quem somos nós
http://mariacarolinacdkl5.blogspot.com/p/quem-somos-nos.html
Maria Carolina e CDKL5. Nossa luta contra essa doença rara. Como diz o resuminho do Blogger:. Sou a Carolina. Mãe 24 horas, esposa e dona de casa. Gremista fanática. Faladeira, ciumenta e apaixonada pela vida! Minha filha, Maria Carolina, foi diagnostica com a CDKL5 em setembro de 2010, depois de 3 anos incansáveis de pesquisas e exames. Hoje, temos uma vida feliz e um único objetivo: aproveitar cada momento que temos com a Maria Carolina! Compartilhar com o Pinterest. 28 de abril de 2014 17:32. PANELATE...
mariacarolinacdkl5.blogspot.com
Maria Carolina e CDKL5: Medicação Utilizada
http://mariacarolinacdkl5.blogspot.com/p/medicacao-utilizada.html
Maria Carolina e CDKL5. Nossa luta contra essa doença rara. A Maria Carolina já tentou todos esses remédios pra tentar controlar as crises convulsivas. Uns tiveram efeitos colaterais indesejáveis e outros, agravaram as crises. Atualmente ela toma o Sabril, o Keppra e o Sonebon. Às vezes umas gotinhas de Rivotril, quando está muito agitada. Hoje, 03/10/2014 Maria Carolina está tomando Sabril, Gardenal e Nitrazepan. Ainda continua tendo uma ou duas crises por dia! Valproato de Sódio (Depakene). Onde conseg...
História CDKL5 - CDKL5 Slovakia
http://www.cdkl5.sk/co-je-cdkl5/historia-cdkl5
Čo je CDKL5 ochorenie. Časté otázky o CDKL5. Sociálne služby a kompenzácie. Charitatívne a benefičné akcie. Darujte 2% z dane. Čo je CDKL5 ochorenie. Časté otázky o CDKL5. Sociálne služby a kompenzácie. Charitatívne a benefičné akcie. Darujte 2% z dane. Príbeh CDKL5 začína Rettovým syndrómom, ktorý ako prvý popísal v roku 1966 Andreas Rett, rakúsky pediater. V 80-tych rokoch boli charakteristiky syndrómu už pevne určené. Obr č 1- CDKL5 gén na chromozóme X. Korekcia: MUDr. Gabriela Nagyová.
mariacarolinacdkl5.blogspot.com
Maria Carolina e CDKL5: Encerrando as postagens...
http://mariacarolinacdkl5.blogspot.com/2015/01/encerrando-as-postagens.html
Maria Carolina e CDKL5. Nossa luta contra essa doença rara. Segunda-feira, 5 de janeiro de 2015. Queridos familiares e amigos, é com um aperto enorme no peito e uma dor indescritível que comunico a vocês que a nossa Maria Carolina ganhou hoje suas asas de anjo e foi nos cuidar lá de cima! Estavamos eu, Fernando e a Dinda Camila ao lado dela todo o tempo! Ela não ficou sozinha em nenhum momento. Partiu com uma carinha tranquila, se sentindo segura e amparada por aqueles que mais a amavam no mundo. Pra mim...
Genetics of CDKL5 | What is CDKL5 | Cure CDKL5
https://www.curecdkl5.org/what-is-cdkl5/what-is-cdkl5-2/genetics-of-cdkl5
Content for Families, Carers and Professionals. What is CDKL5 Disorder. Testing in the UK. A-Z of Symptoms - A Quick Guide. Management of status epilepticus in children with CDKL5. Gastrointestinal Problems - What we've learnt. Gut Motility Problems in Children. Crying Episodes and Pain. Cerebral (Cortical) Visual Impairment (CVI). Dietary Therapies for Epilepsy. Transforming Disease Research - Infographic. From Lab to Patient - Infographic. Life Expectancy in CDKL5 Patients. Equipment, Aids and Adaptions.
CDKL5 - Questions and Answers | CDKL5
https://cdkl5canada.ca/cdkl5-questions-and-answers
The Little Green Dress. CDKL5 - A Guide for Parents. CDKL5 - Questions and Answers. 1 What causes CDKL5 disorder? Mutations in CDKL5 gene are the cause of the disorder. It remains uncertain, however, how lacking a properly functioning CDKL5 protein disturbs the function of the brain cells. Investigators are trying to understand the mechanisms by which this happens. 2 Is the genetic mutation hereditary? 3 What do we know about epileptic seizures in patients with CDKL5 disorders? It has been identified tha...
Ostatné CDKL5 organizácie - CDKL5 Slovakia
http://www.cdkl5.sk/o-nas/ostatne-cdkl5-organizacie
Čo je CDKL5 ochorenie. Časté otázky o CDKL5. Sociálne služby a kompenzácie. Charitatívne a benefičné akcie. Darujte 2% z dane. Čo je CDKL5 ochorenie. Časté otázky o CDKL5. Sociálne služby a kompenzácie. Charitatívne a benefičné akcie. Darujte 2% z dane. Milujem život, pretože mi dal teba. Milujem teba, pretože ty si môj život. John Lennon. CDKL5 Slovakia, o.z. Tel č: 421 908 763 003. Altamira Softworks 2017 CDKL5 2015.
Life on Podtburg Circle...: CDKL5 Life
http://tazjaksha.blogspot.com/p/cdkl5-life.html
Parenthood is about raising and celebrating the child you have, not the child you thought you would have. It's about understanding that he is exactly the person he is supposed to be. And that, if you're lucky, he just might be the teacher who turns you into the person you are supposed to be.” -Joan Ryan. Ava’s health quirks are due to an eight base-pair deletion (c.1547 1554del8) on her CDKL5. Gene We call this the CDKL5 disorder. And it is/was referred to as. Minimal sign language due to awful fine moto...
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supporting-artists.deviantart.com
Supporting-Artists - DeviantArt
Window.devicePixelRatio*screen.width 'x' window.devicePixelRatio*screen.height) :(screen.width 'x' screen.height) " class="mi". Window.devicePixelRatio*screen.width 'x' window.devicePixelRatio*screen.height) :(screen.width 'x' screen.height) ". Join DeviantArt for FREE. Forgot Password or Username? The Heart of Art. Founded 6 Years ago. Come and share, because Supporting Artists is specifically for everyone! Come and share, because Supporting Artists is specifically for everyone! Founded 6 Years ago.
supporting-assessment.wikispaces.com
Supporting-Assessment - home
Skip to main content. Create interactive lessons using any digital content including wikis with our free sister product TES Teach. Get it on the web. 12 Fair, Objective, Professional. 13 Reflect Learning Outcomes. 15 Assessment for Learning. Using Technology to Assess. Welcome to Sun West's Supporting Assessment Wikispace. The purpose of this wikispace is to support administrators and teachers in Saskatchewan as they extend their professional learning about assessment. And implement best practices. Will ...
HOMERUN MAMA | Official Web Site
Justin Bieber Supporters
That Power -Will. I. Am feat. Justin Bieber (Full version). Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Posted 2 years ago by priore4ton. Fifty for the necklace. I don't know your name, but I love your smile. Next page →.
supporting-brittany.blogspot.com
Supporting Brittany
In February of 2012, at age 27, Brittany discovered a large lump in her breast that was latter determined to be "Invasive Ductile Carcinoma". It is aggressive and her physicians are acting quickly and planning to hit the cancer hard. This her story and a place for her community to learn how they can help her fight this disease. Friday, April 13, 2012. One tx down and 5 to go of the TCH days! Thank u all for thinking of me though all this and today! Thursday, April 12, 2012. Click here to help (. PS: Dont...
Supporting CDKL5
The story of CDKL5. Living with Ellie and CDKL5. The Genetics of CDKL5. CDKL5 and Related Research. Hello, my name is Martyn and I live in Leicester, in the UK, with my. Wife Teresa, and our 2 daughters, Hannah and Ellie, and a dog called Max. Ellie was born in 1997 and at about the age of 5 weeks started having seizures. She subsequently developed severe learning difficulties with developmental delay. In 2010, at the age of 13, she was diagnosed with the rare genetic condition CDKL5. A CDKL5 disorder is...
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Supporting Change works with anyone who is feeling even slightly anxious in preparing for a move to a new home. Personal attention is given to every aspect of your relocation. When you walk into your new home, the cups and plates are arranged in the cupboards, clothes are organized in the closet, the beds are made with clocks set.and the clutter is gone. Then we are here to help adapt your home into the safe and organized space that you need in order to remain there for many years to come.
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WIR HABEN SPASS BEI DER ARBEIT! Köhler and Skorupinski. Team für Kommunikationsberatung. RHETORIK · MEDIENTRAINING · COACHING. K S Kommunikation Berlin GBR. Team für Kommunikationsberatung. Rhetorik · Medientraining · Coaching. Kerstin Köhler and C. Tel: 49 30 62 70 89 51. Fax: 49 30 20 07 83 59. Tel: 49 3303 50 95 550. Fax: 49 3303 50 95 555. 2015 K S Kommunikation - Team für Kommunikationsberatung.
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Supporting-club - DeviantArt
Window.devicePixelRatio*screen.width 'x' window.devicePixelRatio*screen.height) :(screen.width 'x' screen.height) " class="mi". Window.devicePixelRatio*screen.width 'x' window.devicePixelRatio*screen.height) :(screen.width 'x' screen.height) ". Join DeviantArt for FREE. Forgot Password or Username? Founded 6 Years ago. This club is to support all kind of artists especially the ones who still are unknown but do have great works to support them and their works and to make [people notice them a bit more.
Building Communities
Princen group, building communities! Princen group bouwt Internetsites en toepassingen sinds 1992. Sinds die tijd hebben talloze innovatieve en creatieve oplossingen het levenslicht gezien. Princen group blijft ontwikkelen en voorop lopen met PG portal als een van de meest complete contentmanagementsystemen in de markt. PG portal wordt continue doorontwikkeld en aangepast aan de eisen die aan websites en internet toepassingen worden gesteld. State of the art Vormgeving, Vindbaarheid, Veil...Met deze site...
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